Details of Disease

General Information of Disease (ID: DIS32GGL)

Disease Name Ocular motor apraxia, Cogan type
Synonyms
saccade initiation failure, congenital; congenital oculomotor apraxia; saccade initiation failure congenital; Cogan's syndrome type 2; COMA; ocular motor apraxia; oculomotor apraxia Cogan type; Cogan syndrome type 2; oculomotor apraxia, Cogan type; oculomotor apraxia, congenital, Cogan-type
Definition
Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.
Disease Hierarchy
DISB52BH: Eye disorder
DIS32GGL: Ocular motor apraxia, Cogan type
Disease Identifiers
MONDO ID
MONDO_0009764
MESH ID
C537423
UMLS CUI
C0543874
OMIM ID
257550
MedGen ID
154254
Orphanet ID
1125
SNOMED CT ID
405809000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ALDH3A2 TTB6UM0 Strong Biomarker [1]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APTX OTPAS5G8 moderate Genetic Variation [2]
INPP5E OTJF2AZ9 Strong Genetic Variation [3]
NPHP1 OTZHCFFQ Strong Genetic Variation [4]
RO60 OTLGM5A8 Strong Biomarker [5]
SUFU OT0IRYG1 Strong Autosomal dominant [6]
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References

1 Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.Hum Mutat. 2005 Apr;25(4):411. doi: 10.1002/humu.9326.
2 Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.Brain. 2011 May;134(Pt 5):1387-99. doi: 10.1093/brain/awr069. Epub 2011 Apr 12.
3 Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.Eur J Paediatr Neurol. 2016 Mar;20(2):286-295. doi: 10.1016/j.ejpn.2015.11.012. Epub 2015 Dec 18.
4 Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.J Pediatr. 2000 Jun;136(6):828-31.
5 Congenital heart block and immune mediated sensorineural hearing loss: possible cross reactivity of immune response.Lupus. 2017 Jul;26(8):835-840. doi: 10.1177/0961203316682099. Epub 2016 Dec 5.
6 Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia. Genet Med. 2021 Feb;23(2):341-351. doi: 10.1038/s41436-020-00979-w. Epub 2020 Oct 7.